Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425260014 | Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3425261013 | Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
759841000241112 | syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
938831000172111 | syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3425262018 | Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Structure of anterior pole of lens | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Fourth ventricle structure | false | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital malrotation (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 2 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Fourth ventricle structure | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | true | Inferred relationship | Some | 4 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | syndrome de Dandy-Walker | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | Congenital anterior polar cataract | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Aplasia | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 6 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital anomaly | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Cerebellar vermis structure | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Lateral aperture of fourth ventricle | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Foramen of Magendie | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Structure of anterior pole of lens | false | Inferred relationship | Some | 7 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 9 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | false | Inferred relationship | Some | 8 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) | localisation d'une constatation (attribut) | Infratentorial brain structure | false | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets